Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001987726 | SCV002224949 | pathogenic | not provided | 2022-09-16 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1446555). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 29625443; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This sequence change creates a premature translational stop signal (p.Arg4991*) in the ADGRV1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ADGRV1 are known to be pathogenic (PMID: 19357117, 22135276, 22147658, 26226137, 30718709, 31047384, 32467589). This variant is present in population databases (no rsID available, gnomAD 0.004%). |
| Gene |
RCV001987726 | SCV005327724 | pathogenic | not provided | 2023-07-03 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31964843, 29625443) |
| Fulgent Genetics, |
RCV005042575 | SCV005672732 | pathogenic | Usher syndrome type 2C; Febrile seizures, familial, 4 | 2024-04-26 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV005057820 | SCV005726789 | pathogenic | ADGRV1-related disorder | 2024-11-11 | criteria provided, single submitter | clinical testing | Variant summary: ADGRV1 c.14971C>T (p.Arg4991X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 4.4e-06 in 225712 control chromosomes. c.14971C>T has been reported in the literature in individuals affected with ADGRV1-Related Disorders (Sun_2018, Internal data). These data indicate that the variant may be associated with disease. The following publications have been ascertained in the context of this evaluation (PMID: 29625443, No_PMID). ClinVar contains an entry for this variant (Variation ID: 1446555). Based on the evidence outlined above, the variant was classified as pathogenic. |